Trisno Stephen L, Higano Nara S, Kechele Dan, Nasr Talia, Chung Wendy, Zorn Aaron M, Woods Jason C, Wells James M, Kingma Paul S
Division of Neonatology and Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.
Center for Pulmonary Imaging Research, Imaging Research Center and Department of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.
Front Pediatr. 2021 Jul 9;9:707822. doi: 10.3389/fped.2021.707822. eCollection 2021.
In this case report, we describe the clinical course of a neonate who presented initially with respiratory distress and later with choking during feeding. He was subsequently found to have an esophageal bronchus to the right upper lung lobe, a rare communicating bronchopulmonary foregut malformation. Histological and molecular analysis of the fistula and distal tissues revealed that the proximal epithelium from the esophageal bronchus has characteristics of both esophageal and respiratory epithelia. Using whole exome sequencing of the patient's and parent's DNA, we identified gene variants that are predicted to impact protein function and thus could potentially contribute to the phenotype. These will be the subject of future functional analysis.
在本病例报告中，我们描述了一名新生儿的临床病程，该新生儿最初表现为呼吸窘迫，随后在喂养时出现呛咳。随后发现他右上肺叶存在一支食管支气管，这是一种罕见的连通性支气管肺前肠畸形。对瘘管和远端组织进行组织学和分子分析发现，食管支气管的近端上皮具有食管上皮和呼吸道上皮的特征。通过对患者及其父母的DNA进行全外显子组测序，我们鉴定出了预计会影响蛋白质功能从而可能导致该表型的基因变异。这些将是未来功能分析的主题。
